Variant report

Variant	rs7583049
Chromosome Location	chr2:11390191-11390192
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10183373	0.83[AFR][1000 genomes]
rs10201229	0.83[AFR][1000 genomes]
rs10205022	0.83[AFR][1000 genomes]
rs10495580	0.91[AFR][1000 genomes]
rs10495581	1.00[AFR][1000 genomes]
rs12329049	0.91[AFR][1000 genomes]
rs12329273	0.91[AFR][1000 genomes]
rs12329341	0.91[AFR][1000 genomes]
rs13388427	0.83[AFR][1000 genomes]
rs13416047	0.83[AFR][1000 genomes]
rs13420367	0.91[AFR][1000 genomes]
rs13431906	0.91[AFR][1000 genomes]
rs1375853	0.83[AFR][1000 genomes]
rs28441302	0.83[AFR][1000 genomes]
rs4267491	0.83[AFR][1000 genomes]
rs55931955	1.00[AFR][1000 genomes]
rs6705981	1.00[AFR][1000 genomes]
rs6748868	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395022	chr2:11316915-11426380	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1013570	chr2:11321519-11405246	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv526038	chr2:11369078-11489531	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv2607	chr2:11381341-11409932	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1827245	chr2:11385834-11442583	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11296200-11412600	Weak transcription	Aorta	Aorta
2	chr2:11297600-11394400	Weak transcription	Right Ventricle	heart
3	chr2:11310600-11433000	Weak transcription	Pancreas	Pancrea
4	chr2:11352600-11411200	Weak transcription	Thymus	Thymus
5	chr2:11352800-11424000	Weak transcription	HSMMtube	muscle
6	chr2:11354600-11423800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:11360400-11396400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:11361000-11397000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:11361000-11397400	Weak transcription	Left Ventricle	heart
10	chr2:11361000-11399200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:11361000-11400200	Weak transcription	Gastric	stomach
12	chr2:11361000-11410800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:11361000-11411200	Weak transcription	Fetal Thymus	thymus
14	chr2:11361000-11416600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:11361200-11425600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:11361600-11396800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:11364400-11423800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:11364800-11397400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr2:11366000-11391000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:11366400-11396800	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:11366600-11390800	Weak transcription	NHLF	lung
22	chr2:11368400-11394400	Weak transcription	Brain Angular Gyrus	brain
23	chr2:11370400-11394200	Weak transcription	Fetal Lung	lung
24	chr2:11372600-11397200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:11372600-11423800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:11375400-11390600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr2:11376200-11410800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:11376800-11394200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:11376800-11395000	Weak transcription	Fetal Heart	heart
30	chr2:11376800-11399000	Weak transcription	Brain Anterior Caudate	brain
31	chr2:11378800-11428600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:11379800-11397000	Weak transcription	GM12878-XiMat	blood
33	chr2:11380000-11396400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:11380200-11390600	Weak transcription	Small Intestine	intestine
35	chr2:11380400-11390200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr2:11380400-11393600	Weak transcription	Hela-S3	cervix
37	chr2:11380400-11397400	Weak transcription	Right Atrium	heart
38	chr2:11380600-11390600	Weak transcription	NHEK	skin
39	chr2:11380600-11390800	Weak transcription	HUVEC	blood vessel
40	chr2:11380800-11390600	Weak transcription	HMEC	breast
41	chr2:11382800-11390600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:11382800-11391000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:11382800-11410200	Weak transcription	Primary B cells from cord blood	blood
44	chr2:11383000-11390400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:11383000-11390600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:11383000-11390800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:11383000-11424000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:11383200-11390800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr2:11383200-11390800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:11383200-11397200	Weak transcription	Lung	lung

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